Evolution and long term outcome in cases with fetal diagnosis of congenital heart disease: Italian multicentre study

Objectives-To analyse the evolution and outcome in utero and after birth of infants with a fetal diagnosis of congenital heart disease. Design-Inclusion criteria were the fetal diagnosis of congenital heart dise ase, confirmed postnatally or postmortem, and a complete follow up in utero and after birth. Setting-20 centres operating prenatal echocardiographic screening. Patients-847 cases were included in the study. Gestational age at diagnosis ranged from 15-39 weeks; in 370 cases (43.7%) the diagnosis was made befor e 24 weeks' gestation. Results-245/847 cases (28.9%) were terminated during pregnancy, 227 followi ng early diagnosis; 128/245 cases (52.2%) had associated anomalies and 117/ 245 (47.8%) had serious congenital heart disease. Of the remaining 602 case s that continued the pregnancy, 72 (11.9%) died in utero, 259 (43%) died po stnatally (83 after surgery or invasive procedures), and 271 infants (45%) survived and presently range in age from 18 months to 13 years old. The mor tality rate was higher in cases with associated extracardiac or chromosomal anomalies (68% and 74% of cases continuing pregnancy, respectively), and i n cases with heart failure and complex cardiac defects. Conclusions-The data confirm a relevant fetal and postnatal loss in cases w ith complex congenital heart disease, and major clinical use of prenatal di agnosis in the management of ductus dependent anomalies. Negative prognosti c factors for the outcome were associated anomalies and heart failure.